ClinVar Miner

List of variants in gene RPGRIP1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu) rs199590641 0.00073
NM_020366.4(RPGRIP1):c.2665G>A (p.Ala889Thr) rs184926375 0.00031
NM_020366.4(RPGRIP1):c.376G>C (p.Gly126Arg) rs375226924 0.00030
NM_020366.4(RPGRIP1):c.2075A>G (p.His692Arg) rs200401966 0.00023
NM_020366.4(RPGRIP1):c.3505G>C (p.Glu1169Gln) rs201191634 0.00021
NM_020366.4(RPGRIP1):c.3644C>T (p.Pro1215Leu) rs1295657393 0.00018
NM_020366.4(RPGRIP1):c.161G>A (p.Arg54His) rs376250340 0.00016
NM_020366.4(RPGRIP1):c.968T>C (p.Leu323Pro) rs199982906 0.00016
NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=) rs140904308 0.00014
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360 0.00012
NM_020366.4(RPGRIP1):c.1588C>T (p.Arg530Cys) rs373592510 0.00005
NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val) rs760334377 0.00004
NM_020366.4(RPGRIP1):c.2173C>G (p.Leu725Val) rs755791291 0.00001
NM_020366.4(RPGRIP1):c.3414C>T (p.Asn1138=) rs398124355 0.00001
NM_020366.4(RPGRIP1):c.128G>C (p.Arg43Pro) rs762187880
NM_020366.4(RPGRIP1):c.2504A>G (p.Asp835Gly) rs749361825
NM_020366.4(RPGRIP1):c.2568T>C (p.Leu856=) rs794727175
NM_020366.4(RPGRIP1):c.3647T>C (p.Leu1216Pro) rs749051039
NM_020366.4(RPGRIP1):c.3649G>A (p.Asp1217Asn) rs886044548
NM_020366.4(RPGRIP1):c.783G>A (p.Gln261=) rs398124356

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